We report on a girl with holoprosencephaly and a small, de novo interstitial deletion of most of band 2(p21). The similarity between the cytogenetic findings and CNS malformations in our patient and those recently reported by Münke et al. [Am J Med Genet 30:929-938, 1988] suggests a phenotypic relationship between deletion of this band and holoprosencephaly.
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Wilson et al. (1989) studied this question.
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